Congenital syphilis: a rare presentation of a forgotten infection.

Congenital syphilis (CS), a common but forgotten disease has a broad spectrum of clinical presentation. Vertical transmission of this spirochaetal infection from the pregnant mother to the foetus can result in varied manifestations ranging from asymptomatic infection to life- threatening conditions in the form of stillbirth and neonatal death. The haematological and visceral manifestations of this disease can closely mimic various conditions including haemolytic anaemia and malignancies. Congenital syphilis should be considered as a differential in any infant presenting with hepatosplenomegaly and haematological abnormalities even if the antenatal screen was negative. We report a 6-month-old infant with congenital syphilis presenting with organomegaly, bicytopenia and monocytosis. A strong index of suspicion and early diagnosis is the key to the good outcome as treatment is simple and cost- effective.

Familial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures.

Magnesium is one of the most abundant electrolytes in the human body but is often forgotten when it comes to the evaluation of an infant presenting with hypocalcemia. Its deficiency can present as neurological, cardiac and skeletal symptoms. Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive genetic disease caused by a transient receptor potential melastatin 6 gene pathogenic variant (TRMP6). The underlying defect lies in the intestinal absorption of magnesium. A delay in diagnosis and lack of timely initiation of treatment can lead to long term irreversible neurological complications and even death. We describe a case of an infant presenting with seizures and severe hypomagnesemia and hypocalcemia. Genetic analysis subsequently identified the abnormality as a frameshift mutation in the TRMP6 gene confirming the diagnosis of Familial hypomagnesemia with secondary hypocalcemia. With fewer than a hundred cases reported in the literature, we aim to highlight the importance of early diagnosis and treatment initiation and create a deeper understanding of the disease.

Aortic tortuosity in Turner syndrome is associated with larger ascending aorta.

Turner syndrome (TS) is associated with aortic coarctation, dissection and dilation/aneurysm. Predictors of dissection are not well delineated, making decisions regarding prophylactic root replacement challenging. In other disorders, arterial tortuosity is an imaging biomarker associated with increased risk for aortic dissection and adverse cardiovascular events. We aimed to determine if, in TS, arterial tortuosity was associated with aortic dilation or aortic events. We performed a retrospective cohort analysis of unselected women and children with TS who underwent cardiovascular magnetic resonance angiography (MRA) for a prior prospective study. We calculated tortuosity indices including vertebral artery tortuosity index, aortic arch tortuosity index, thoracic aortic tortuosity index (ATI-D), and aortic tortuosity index to the celiac artery (ATI-C). We compared tortuosity in TS patients against age and gender matched controls. We evaluated univariable and multivariable associations between the tortuosity indices and aortic root and ascending aorta size as defined by z-scores, which give a sense of how far a measurement deviates from the mean. We also studied associations between tortuosity and need for aortic root replacement or aortic dissection. Of 184 subjects, with median age 34 years, mean general aortic root z-score was 0.1 ± 1.2 and mean general ascending aortic z-score was 0.4 ± 1.5. Three patients had aortic dissection, and one had prophylactic root replacement, which all occurred prior to first MRA. Vertebral tortuosity index, ATI-D, and ATI-C all increased with age (p < 0.0001) for all. ATI-C was associated with larger general ascending z-score. In multivariable analysis, ATI-C remained independently associated with larger ascending aortic z-scores. The relationship between aortic indices and surgery/dissection could not be evaluated since all were collected post-surgery/dissection. Thoracic aortic tortuosity as measured by ATI-C is independently associated with larger ascending aortic dimensions. In this population with only three aortic dissections occurring prior to imaging assessment, we could not assess for associations between aortic tortuosity and dissection. Studies including more patients with aortic dissection are needed to draw further conclusions.

Right Ventricular Strain Is Associated With Increased Length of Stay After Tetralogy of Fallot Repair.

BACKGROUND: Little is known regarding right ventricular (RV) remodeling immediately after Tetralogy of Fallot (TOF) repair. We sought to describe myocardial deformation by cardiac magnetic resonance imaging (CMR) after TOF repair and investigate associations between these parameters and early post-operative outcomes. METHODS: Fifteen infants underwent CMR without sedation as part of a prospective pilot study after undergoing complete TOF repair, prior to hospital discharge. RV deformation (strain) was measured using tissue tracking, in addition to RV ejection fraction (EF), volumes, and pulmonary regurgitant fraction. Pearson correlation coefficients were used to determine associations between both strain and CMR measures/clinical outcomes. RESULTS: Most patients were male (11/15, 73%), with median age at TOF repair 53 days (interquartile range, 13,131). Most patients had pulmonary stenosis (vs. atresia) (11/15, 73%) and 7 (47%) received a transannular patch as part of their repair. RV function was overall preserved with mean RV EF of 62% (standard deviation [SD], 9.8). Peak radial and longitudinal strain were overall diminished (mean ± SD, 33.80 ± 18.30% and -15.50 ± 6.40%, respectively). Longer hospital length of stay after TOF repair was associated with worse RV peak radial ventricular strain (correlation coefficient (r), -0.54; p = 0.04). Greater pulmonary regurgitant fraction was associated with shorter time to peak radial RV strain (r = -0.55, p = 0.03). CONCLUSIONS: In this small study, our findings suggest presence of early decrease in RV strain after TOF repair and its association with hospital stay when changes in EF and RV size are not yet apparent.

Strain in children with MIS-C and acute COVID-19.

Context: Cardiac injury has been described in both acute COVID-19 and the multisystem inflammatory syndrome in children (MIS-C). Echocardiographic strain has been shown to be a sensitive measure of systolic function. Aims: We sought to describe strain findings in both the groups on initial presentation and follow-up. Settings and Design: A retrospective study analyzing echocardiograms of all patients presenting with acute COVID-19 infection and MIS-C at our institution between March 2020 and December 2020 was performed. Subjects and Methods: TOMTEC software was used for strain analysis in both the study groups (COVID-19 and MIS-C) and age-matched healthy controls. Strain was correlated with LV ejection fraction (EF) and serum troponin levels. Results: Forty-five patients (34 - MIS-C and 11 - COVID-19) met the inclusion criteria. There was a statistically significant decrease in LV longitudinal strain (P < 0.001), LV circumferential strain (P < 0.001), and left atrial strain (P = 0.014) in the MIS-C group when compared to the control group. There was a statistically significant decrease in LV longitudinal strain (P = 0.028) in the acute COVID-19 group. All patients with abnormal left ventricular EF (LVEF) had abnormal strain. However, 14 (41%) patients in the MIS-C group and 3 (27%) in the acute COVID-19 group had preserved LVEF but abnormal strain. There was a significant correlation with LV longitudinal strain (P = 0.005) and LVEF (P = 0.002) and troponin in patients with MIS-C. Abnormal strain persisted in one-third of patients in the MIS-C and acute COVID-19 groups on outpatient follow-up. Conclusions: Patients with MIS-C and acute COVID-19 can develop myocardial dysfunction as seen by abnormal strain. LV longitudinal strain correlates with cardiac injury as measured by serum troponin in patients with MIS-C. Strain may provide an additional tool in detecting subtle myocardial dysfunction. It can be routinely employed at diagnosis and at follow-up evaluation of these patients.

Recurrent pneumonia owing to migratory peanut foreign body.

Accidental foreign body aspiration in children is a leading cause of childhood morbidity. Prompt recognition and timely management reduce complications, some of which are potentially fatal. A previously well 2-year-old girl presented with recurrent episodes of cough, fever and tachypnoea with chest indrawing for the previous 7 months. The first episode lasted almost 4 weeks. There was no history of choking. She was underweight (Z-score -2 to -3) with initially normal height. The chest radiograph demonstrated opacities in the left lung first, but subsequently there were lesions in both lungs. Computerised tomography confirmed the chest radiograph findings. Bronchoscopy demonstrated pus and granulomatous tissue in the left main bronchus, but no foreign body was detected and she was treated with antibiotics. Over the following 18 months she had several outpatient and four inpatient treatments for the same complaint. There was progressive weight loss, stunting and she developed finger clubbing. During her fourth admission, a repeat bronchoscopy again demonstrated granulomatous tissue with pus in the left main bronchus and remnants of a migratory peanut and signs of early bronchiectasis. Following removal of the peanut, her health began to recover, and, at follow-up a year later, her chest radiograph was normal, her growth had caught up and she was in normal health.

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients.

Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic resonance imaging (MRI) has not been used for myocardial characterization. Ten patients with genetically confirmed ANO5-RD were enrolled in a phenotyping study to better characterize cardiac involvement. Evaluations included medical history, neurological examination and cardiac evaluations (electrocardiogram, echocardiogram and cardiac MRI). All patients were clinically asymptomatic from a cardiac perspective. Muscle MRI was consistent with previous studies of ANO5-RD with increased T1 signal in the posterior and medial compartments of the upper leg and the posterior compartment of the lower leg. Cardiac studies using echocardiography and cardiac MRI revealed dilation of the aortic root and thickening of the aortic valve without significant stenosis in 3/10 patients. There was evidence of abnormal late gadolinium enhancement (LGE) on cardiac MRI in 2/10 patients. In ANO5-RD, the development of cardiac fibrosis, edema or inflammation as demonstrated by LGE has not yet been reported. Cardiac MRI can characterize cardiac tissue and may detect subtle changes before they appear on echocardiography, with potential prognostic implications.

Successful Increase of Outpatient Clinic Continuity in a Fellowship Quality Improvement Project.

BACKGROUND: Patient-to-physician continuity is the result of coordinated and consistent care. Optimizing continuity can be a challenge in medical training without impacting work hours. We sought to use quality improvement science during graduate medical training to increase outpatient continuity. OBJECTIVE: The primary goal was to improve outpatient continuity in our pediatric cardiology fellowship, without increasing trainee clinic hours, from a baseline of 38% to ≥70% within 18 months. METHODS: Our fellowship conducted a quality improvement project across 3 years to improve continuity-of-care in our outpatient clinic using the Institute for Healthcare Improvement model for improvement. We conducted Plan-Do-Study-Act cycles and completed a key driver diagram using a multidisciplinary team. We defined continuity as a patient being evaluated by their primary fellow or a different fellow that was provided a handoff. The outcome measure was the continuity rate over 2-week periods. RESULTS: Continuity improved from 38% to ≥80%. The improvement resulted from a series of interventions, including creating a handoff system among fellows, identifying follow-up patients in advance, and communicating this information to the clinic team. Although we anticipated a decrease when new fellows were incorporated, continuity continued to be ≥70%. This system retained continuity above 90% one year after completion of the project. CONCLUSIONS: Our fellowship created a system change to improve primary patient-to-fellow continuity care rates. We achieved sustainable continuity by working with a multidisciplinary team without altering staffing, infrastructure, or fellow work hours. This project engaged trainees to address the practical application of quality improvement methodology to solve a common clinical problem.

Lessons learnt from an old foe.

Neurotuberculosis usually responds well to standard antitubercular therapy. Some; patients have prolonged course A 11 year old boy diagnosed TBM, an immunocompetent patient, had an unusual course of illness in the form of prolonged fever, persistent hyponatremia and CSF; pleocytosis despite adequate treatment. Clinical course in the management of TBM can be; protracted with complications despite adequate therapy.

Parry-Romberg syndrome in an adolescent: a case report on progressive hemifacial atrophy.

Parry-Romberg syndrome is a rare degenerative disorder causing progressive atrophy of skin and soft tissues of the face and neck, which is usually unilateral. The mean age of onset is usually in the second decade of life and the disease causes functional, aesthetic and psychological disabilities in the affected individual. We present a 14-year-old boy with this disorder. The diagnosis was based on clinical characteristics. A multidisciplinary team approach involving rheumatologists, dermatologists, maxillofacial surgeons, dentists and psychologists is required for the management of this problem, which is mainly targeted at controlling active inflammation with the use of immunosuppressive agents in addition to possible surgical correction of repositioning of adipose tissue that is lost due to atrophy.

Effectiveness of dry heat application on ease of venepuncture in children with difficult intravenous access: A randomized controlled trial.

PURPOSE: To assess the efficacy of dry heat application in children with difficult intravenous (IV) access. DESIGN AND METHODS: A randomized controlled trial was conducted in the pediatric wards of a tertiary care hospital in a Metropolitan city in South India. Based on inclusion and exclusion criteria, children in the age group of 5-18 years were randomized into intervention and control groups of 42 children each. The intervention was an electric heating pad (40°C) applied at the site of the identified IV access for 10 min before IV insertion. Outcomes included the number of IV attempts, the time required to access the IV line, and the discomfort level of the child expressed in terms of the Oucher scale. RESULTS: With respect to the number of attempts taken to achieve an IV access, all children in the intervention group only required one attempt, whereas only 29% of those in the control group required a single attempt (p < .001), X2 (1, 84) = 43.67, p < .001. The mean time (in seconds) to insert an IV line was lower in the intervention group (M = 64.56, standard deviation [SD] = 28.32) than in the control group (M = 110.70, SD = 51.54), t (82) = 5.09, p < .001. Children in the intervention group were 45.2 percentage points more likely to experience a discomfort level of "little hurt" as compared to their counterparts in the control group, X2 (1, 84) = 18.02, p < .001. Results from regression analyses supported the unadjusted outcomes comparisons between the two groups. PRACTICE IMPLICATIONS: Dry heat application before IV line insertion significantly improves the ease of venepuncture and reduces the pain perceived by the patient. This method of IV cannulation can be adopted in children with problematic IV access.

Multimodality Cardiac Imaging in a Patient with Kawasaki Disease and Giant Aneurysms.

Kawasaki disease is a well-known cause of acquired cardiac disease in the pediatric and adult population, most prevalent in Japan but also seen commonly in the United States. In the era of intravenous immunoglobulin (IVIG) treatment, the morbidity associated with this disease has decreased, but it remains a serious illness. Here we present the case of an adolescent, initially diagnosed with Kawasaki disease as an infant, that progressed to giant aneurysm formation and calcification of the coronary arteries. We review his case and the literature, focusing on the integral role of multimodality imaging in managing Kawasaki disease.

Erroneous glucose recordings while using mutant variant of quinoprotein glucose dehydrogenase glucometer in a child with galactosemia.

We report a 2-month-old child with galactosemia and falsely high glucose readings with a glucometer using mutant variant of quinoprotein glucose dehydrogenase (MutQ-GDH) chemistry. Potentially fatal hypoglycemia could have been induced in the child if insulin infusion had been initiated as per glycemic management protocol. Even though, the product information with the glucometer carries warning regarding interference by high galactose levels, the awareness regarding this interaction is generally poor in many practice settings. Although, false readings have been reported with glucose dehydrogenase pyrroloquinoline quinone (GDH-PQQ) glucometers, to our knowledge this is the first case report of a falsely high glucose reading due to high galactose in a proven case of galactosemia with a glucometer using the MutQ-GDH chemistry (a modified GDH-PQQ chemistry). Our experience has prompted us to write this case report and we suggest avoiding these glucometers in neonates and infants when a metabolic disease is suspected.

A mathematical model for electrical stimulation of a monolayer of cardiac cells.

BACKGROUND: The goal of our study is to examine the effect of stimulating a two-dimensional sheet of myocardial cells. We assume that the stimulating electrode is located in a bath perfusing the tissue. METHODS: An equation governing the transmembrane potential, based on the continuity equation and Ohm's law, is solved numerically using a finite difference technique. RESULTS: The sheet is depolarized under the stimulating electrode and is hyperpolarized on each side of the electrode along the fiber axis. CONCLUSIONS: The results are similar to those obtained previously by Sepulveda et al. (Biophys J, 55: 987-999, 1989) for stimulation of a two-dimensional sheet of tissue with no perfusing bath present.